Results 181 to 190 of about 975,983 (211)
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The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

American journal of human genetics, 1985
An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine beta-synthase deficiency and permit evaluation of treatment. Data were compiled for 629 patients. Among patients not discovered by newborn screening, B6-responsive individuals on the average have significantly better ...
Mudd SH   +9 more
openaire   +3 more sources

The 844ins68 polymorphism of the cystathionine beta-synthase gene is associated with schizophrenia

Psychiatry Research, 2009
A subtle genetic defect in homocysteine metabolism is thought to play an etiologic role in schizophrenia. Cystathionine-beta-synthase (CBS) is a key enzyme related to homocysteine levels. The aim of the present study was to search for association between the 844ins68 polymorphism of the CBS gene and schizophrenia in a large Russian sample using case ...
Vera, Golimbet   +3 more
openaire   +2 more sources

Marine natural products as inhibitors of cystathionine beta-synthase activity

Bioorganic & Medicinal Chemistry Letters, 2015
A library consisting of characterized marine natural products as well as synthetic derivatives was screened for compounds capable of inhibiting the production of hydrogen sulfide (H2S) by cystathionine beta-synthase (CBS). Eight hits were validated and shown to inhibit CBS activity with IC50 values ranging from 83 to 187μM.
Megan K, Thorson   +6 more
openaire   +2 more sources

Cystathionine beta-synthase and gamma-cystathionase in helminths.

Parasitology research, 1992
The activities of gamma-cystathionase and cystathionine beta-synthase were investigated in a range of gastrointestinal, free-living and entomophagous nematodes. Although nematode gamma-cystathionase used the same range of substrates as the mammalian hepatic enzyme, its activity was extremely low and there were significant interspecies variations with ...
J, Walker, J, Barrett
openaire   +1 more source

Postoperative thromboemboli in cystathionine beta-synthase deficiency

American Heart Journal, 1984
G M, Jackson   +4 more
openaire   +2 more sources

Management of pregnancy in cystathionine beta-synthase deficiency

Molecular Genetics and Metabolism, 2022
K Arduini, L Hitchins, D Bartke
openaire   +1 more source

Cystathionine Beta-Synthase Deficiency

2009
Nils Peters   +199 more
openaire   +1 more source

Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype

Biochimica Et Biophysica Acta - General Subjects, 2022
Nader Al-Dewik   +2 more
exaly  

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